A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3678632



Internal ID19396640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:19642676..19642987hg38UCSC Ensembl
chr9:19642674..19642985hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16499973
Samples
Known GenesSLC24A2
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)esv3678632
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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